The combination of renal tubular dysgenesis (RTD) and meconium ileus in a native Israeli is presented for the first time. The clinical diagnosis was oligohydramnios and abruptio placentae, respiratory failure, and anuria refractory to treatment. The autopsy revealed meconium ileus and meconium peritonitis. RTD was established by the detection of a monomorphous undifferentiated population of tubules, absence of proximal tubules, and dense epithelial membrane antigen immunoreactivity of all tubules. The lack of alpha 1-antitrypsin- and lysozyme-immunoreactive tubules was first revealed in the kidney with RTD. These findings extend the possibilities of RTD detection.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/15513819409024258 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sutureless Loop Enterostomy in Very Low and Extremely Low Birth Weight Infants.
Cureus
November 2024
Department of Hepato-Biliary-Pancreatic Surgery and Pediatric Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, JPN.
Introduction Sutureless enterostomy is used as an effective technique for constructing an enterostomy in very low and extremely low birth weight infants in Japan. Sutureless enterostomy is a separate type of enterostomy procedure for low birth weight infants. We adapted this technique and developed sutureless loop enterostomy (SLE), an approach without a skin bridge in which the intestinal wall is not sutured to the abdominal wall.
View Article and Find Full Text PDFOutcomes of prenatal use of elexacaftor/tezacaftor/ivacaftor in carrier mothers to treat meconium ileus in fetuses with cystic fibrosis.
J Cyst Fibros
December 2024
Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO, United States.
As cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies including elexacaftor/tezacaftor/ivacaftor (ETI) have become widely used in eligible patients with cystic fibrosis (CF), the use of these medications in pregnant people has become a critical area of investigation. Since these medications appear generally safe to both mother and fetus when taken by pregnant people with CF, interest has pivoted to the use of ETI in CF carrier mothers to decrease morbidity and mortality from meconium ileus (MI) in fetuses with cystic fibrosis. Here we discuss three infants at our institution with ultrasound findings of MI who were exposed to prenatal ETI through CF carrier mothers for the purposes of treating MI and lowering risk of intestinal complications from this severe manifestation of CF.
View Article and Find Full Text PDFPrediction of Intestinal Perforation by Daily Radiographic Findings in Very Low Birth Weight Infants With Meconium Ileus.
J Pediatr Surg
February 2025
Department of Pediatric Surgery, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8677, Japan.
Background: This study aimed to develop a prediction model for intestinal perforation from meconium ileus (MI) based on findings from plain X-ray images.
Methods: Very low birth weight (VLBW) infants with MI hospitalized in two tertiary centers between 2011 and 2022 were included in this study. We retrospectively reviewed clinical parameters and assessed plain X-ray images from 0 to 5 days of age.
Four-year evaluation of neonatal cystic fibrosis screening in Southern Belgium.
Eur J Pediatr
November 2024
Department of Pediatric Pulmonology and Cystic Fibrosis, Centre Hospitalier Universitaire de Liège, Liège, Belgium.
Unlabelled: Newborn screening for cystic fibrosis (CF-NBS) using an IRT-DNA algorithm with a 12 CFTR-variant panel and an IRT/IRT failsafe was officially implemented in the French-speaking Community of Belgium in January 2020. This screening protocol was evaluated after 4 years according to the criteria defined by the European Cystic Fibrosis Society's working group on neonatal screening. Immunoreactive trypsinogen concentration (IRT) was measured on dried blood spots collected between the second and the fourth day of life.
View Article and Find Full Text PDFComplicated meconium ileus in a male neonate with cystic fibrosis: Case report.
Radiol Case Rep
January 2025
Neonatology Division. Departement of Pediatrics, Mohammed V Military Teaching Hospital, Rabat, Morocco.
In about 10%-15% of instances, meconium ileus (MI) is the first sign of cystic fibrosis (CF). If a newborn exhibits signs of intestinal obstruction and does not pass meconium within a short period of time after birth, MI is suspected. The cystic fibrosis transmembrane conductance regulator gene (CFTR), which is found on chromosome 7q31, is mutated in CF patients.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!